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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGA2B
(R547C)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
+1 more
GUncertain significance
ITGA2B
(C576S)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(R774W)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(F1024I)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(E796del)
Microsatellite
(inframe_deletion)
Glanzmann thrombasthenia
+1 more
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(splice acceptor variant)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
(S841P)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(M520L)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(A733V)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
+2 more
GUncertain significance
ITGA2B
(G1007V)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(D59G)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia 1
+1 more
GUncertain significance
ITGA2B
(D194N)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(I995fs)
Deletion
(frameshift variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGB3
(N331S)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia 2
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(Y197C)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Platelet-type bleeding disorder 16
GUncertain significance
ITGA2B
(T381I)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGB3
(S237fs)
Microsatellite
(frameshift variant)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
(E1032fs)
Duplication
(frameshift variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(R977*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
Single nucleotide variant
(intron variant)
ITGA2B-related disorder
+2 more
GBenign/Likely benign
ITGA2B
(D591A)
Single nucleotide variant
(missense variant)
Platelet-type bleeding disorder 16
+3 more
GLikely pathogenic
ITGA2B
(R348Q)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(A989T)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely benign
ITGB3
(D250G)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
(Q567*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
Deletion
(intron variant)
Glanzmann thrombasthenia
GBenign
ITGA2B
(Q837H)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GBenign
ITGB3
(E654K)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GBenign
ITGA2B
(R1026W)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(R1026Q)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
EFCAB13-DT, ITGB3
(R750*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
ITGB3
(R240Q)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GPathogenic
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